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rs4147929 variant minor allele increases ABCA7 gene expression and ABCA7 shows increased gene expression in Alzheimer’s disease patients compared with controls

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ARTICLE DOWNLOAD

rs4147929 variant minor allele increases ABCA7 gene expression and ABCA7 shows increased gene expression in Alzheimer’s disease patients compared with controls

10$

Guiyou Liu, Haihua Zhang, Bian Liu, Tao Wang, Zhifa Han & Xunming Ji 

In recent years, large-scale genome-wide association studies (GWAS) have identified a number of novel Alzheimer’s disease (AD) genetic variants including ABCA7 gene rs3764650 variant (T>G, G is the minor allele, OR = 1.18 and P = 7.52E-14 for G allele) and its proxy variant (D′ = 0.64) rs4147929 (A>G, A is the minor allele, OR = 1.14 and P = 7.77E-16 for A allele) in European population. In 2019, De Roeck et al. conducted a comprehensive review, and found that rs4147929 A allele could reduce the expression of ABCA7 using eQTLs datasets from the Genotype-Tissue Expression (GTEx) project. They further concluded that the decrease of ABCA7 expression was the main pathological mechanism of AD, and targeting ABCA7 transcription or splicing to increase functional ABCA7 expression could be a valuable therapeutic approach. However, De Roeck et al. did not provide strong evidence to support this conclusion, just provided four underlying hypotheses to cause this situation, and finally gave three solutions to answer these hypotheses.

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Year 2020
Language English
Format PDF
DOI 10.1007/s00401-020-02135-9